Variant report

Variant	rs17121833
Chromosome Location	chr1:61692655-61692656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61691680..61694705-chr1:61697594..61700756,3	K562	blood:
2	chr1:61691124..61693538-chr1:61697594..61700480,2	K562	blood:
3	chr1:61546363..61549423-chr1:61689962..61692895,3	K562	blood:
4	chr1:61517584..61519550-chr1:61691438..61693458,2	MCF-7	breast:
5	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:
6	chr1:61685407..61688554-chr1:61690743..61693664,3	K562	blood:

Variant related genes	Relation type
ENSG00000263380	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11806791	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336184	1.00[ASN][1000 genomes]
rs17121798	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17121835	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121841	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121845	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17305204	0.80[CEU][hapmap]
rs17305218	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs17311684	0.80[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17311740	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs17377134	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs17377148	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17377218	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs17377267	0.80[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377274	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377351	0.80[CEU][hapmap]
rs55878063	0.87[EUR][1000 genomes]
rs59708846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61593957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911905	1.00[ASN][1000 genomes]
rs72929847	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086705	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090339	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090351	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515011	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868110	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9970076	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970140	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61682000-61706800	Weak transcription	Gastric	stomach
3	chr1:61686800-61693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:61690400-61693000	Enhancers	Fetal Heart	heart
5	chr1:61690400-61696400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:61690600-61696400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:61690600-61699000	Weak transcription	Ovary	ovary
8	chr1:61690800-61693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:61690800-61693600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:61691200-61694200	Enhancers	Brain Substantia Nigra	brain
11	chr1:61691800-61693000	Enhancers	Brain Angular Gyrus	brain
12	chr1:61691800-61694200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:61691800-61694200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:61691800-61694200	Enhancers	Fetal Brain Male	brain
15	chr1:61691800-61694200	Enhancers	Fetal Brain Female	brain
16	chr1:61692000-61692800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:61692000-61692800	Enhancers	Stomach Mucosa	stomach
18	chr1:61692000-61693000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:61692000-61694200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:61692200-61692800	Enhancers	Fetal Stomach	stomach
21	chr1:61692200-61693000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:61692200-61696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:61692400-61692800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:61692400-61692800	Flanking Active TSS	Aorta	Aorta
25	chr1:61692400-61692800	Enhancers	Esophagus	oesophagus
26	chr1:61692400-61692800	Enhancers	Fetal Lung	lung
27	chr1:61692400-61692800	Enhancers	Left Ventricle	heart
28	chr1:61692400-61692800	Enhancers	Pancreas	Pancrea
29	chr1:61692400-61692800	Flanking Active TSS	Psoas Muscle	Psoas
30	chr1:61692400-61692800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:61692400-61692800	Enhancers	Right Ventricle	heart
32	chr1:61692400-61692800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr1:61692400-61693000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:61692400-61693000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:61692400-61693000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr1:61692400-61693000	Enhancers	Fetal Muscle Leg	muscle
37	chr1:61692400-61693200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:61692400-61693200	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr1:61692400-61693200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:61692400-61693200	Enhancers	K562	blood
41	chr1:61692400-61693400	Flanking Active TSS	Liver	Liver
42	chr1:61692400-61693400	Flanking Active TSS	NHEK	skin
43	chr1:61692400-61694200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:61692600-61692800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:61692600-61692800	Flanking Active TSS	Right Atrium	heart
46	chr1:61692600-61693000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:61692600-61693000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:61692600-61693000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr1:61692600-61693000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:61692600-61693000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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